ClinVar Miner

Submissions for variant NM_001256715.2(DNAAF3):c.323-4del

gnomAD frequency: 0.00533  dbSNP: rs201986299
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245196 SCV000307137 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725451 SCV000337040 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Invitae RCV001080197 SCV000561305 benign Primary ciliary dyskinesia 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001080197 SCV002645199 benign Primary ciliary dyskinesia 2016-07-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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